Fetal anomalies
Gene: CTGF

CTGF (connective tissue growth factor)
EnsemblGeneIds (GRCh38): ENSG00000118523
EnsemblGeneIds (GRCh37): ENSG00000118523
OMIM: 121009, Gene2Phenotype
CTGF is in 4 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.

Panel Version: 6.120

Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.

Panel Version: 6.29

Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.

Panel Version: 6.28

CCN2 is the new HGNC approved name. Amber on Australian fetal anomalies panel. ; PMID 39506047: exome sequencing in 3 children from 2 unrelated families who had kyphomelic dysplasia (all had had short stature, cleft palate, and micro-retrognathia) - found 2 novel homozygous variants, missense variant p.(Cys148Tyr) and 8-bp deletion p.(Pro260LeufsTer7). Zebrafish model showed altered body curvature and impaired cartilage formation in craniofacial region resulting in either bent or missing tails. ; PMID 12736220: Ctgf(-/-) mice show skeletal dysmorphisms.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.

Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kyphomelic dysplasia

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Kyphomelic dysplasia, OMIM:211350
kyphomelic dysplasia, MONDO:0008881
spondyloepimetaphyseal dysplasia, MONDO:0100510

Tags

new-gene-name

OMIM

121009

Clinvar variants

Variants in CTGF

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: CTGF. Tag Q3_25_NHS_review was removed from gene: CTGF.

12 Dec 2025, Gel status: 3